ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) (rs1800362)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575908 SCV000673292 benign Hereditary cancer-predisposing syndrome 2016-08-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432064 SCV000511767 likely benign not provided 2016-09-20 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000120977 SCV000168401 benign not specified 2013-10-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000120977 SCV000085145 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000205371 SCV000481135 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000432064 SCV000695429 benign not provided 2016-04-29 criteria provided, single submitter clinical testing Variant summary: The c.416G>A variant affects a conserved nucleotide, resulting in amino acid change from Gly to Glu. 4/4 in-silico tools predict damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is found in 508/120796 control chromosomes (6 homozygotes) at a frequency of 0.0042054. The variant was present predominantly in the African population at a frequency of 4.5% which is about 26 times of the maximal expected frequency of a pathogenic allele (0.0017678), strongli indicating this variant is benign. In addition, publications/clinical laboratories have classified this variant as benign. Taken together, this variant was classified as benign.
Invitae RCV000205371 SCV000261883 benign Fanconi anemia 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120977 SCV000302520 benign not specified criteria provided, single submitter clinical testing

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